Literature DB >> 10472540

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.

G M Hadjigeorgiou1, G P Comi, A Bordoni, J Shen, Y T Chen, S Salani, A Toscano, F Fortunato, S Lucchiari, N Bresolin, C Rodolico, M G Piscaglia, L Franceschina, A Papadimitriou, G Scarlato.   

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Year:  1999        PMID： 10472540     DOI： 10.1023/a:1005572906807

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.

Authors:  J Shen; Y Bao; H M Liu; P Lee; J V Leonard; Y T Chen
Journal:  J Clin Invest       Date:  1996-07-15       Impact factor: 14.808

2.  Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.

Authors:  Y Bao; T L Dawson; Y T Chen
Journal:  Genomics       Date:  1996-12-01       Impact factor: 5.736
  2 in total
  7 in total

1.  Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Authors:  Yoriko Endo; Asako Horinishi; Matthias Vorgerd; Yoshiko Aoyama; Tetsu Ebara; Toshio Murase; Masato Odawara; Teodor Podskarbi; Yoon S Shin; Minoru Okubo
Journal:  J Hum Genet       Date:  2006-09-19       Impact factor: 3.172

2.  Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

Authors:  Ili Syazwana Abdullah; Ser-Huy Teh; Fiqri Dizar Khaidizar; Lock-Hock Ngu; Wee-Teik Keng; Sufin Yap; Zulqarnain Mohamed
Journal:  Genes Genomics       Date:  2019-04-26       Impact factor: 1.839

3.  Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.

Authors:  S Lucchiari; D Santoro; S Pagliarani; G P Comi
Journal:  Acta Myol       Date:  2007-07

4.  Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Authors:  Faten Ben Rhouma; Hatem Azzouz; François M Petit; Mariem Ben Khelifa; Amel Ben Chehida; Fehmi Nasrallah; Frédéric Parisot; Khaled Lasram; Rym Kefi; Yosra Bouyacoub; Lilia Romdhane; Christiane Baussan; Naziha Kaabachi; Marie-Françoise Ben Dridi; Neji Tebib; Sonia Abdelhak
Journal:  Mol Biol Rep       Date:  2013-05-08       Impact factor: 2.316

5.  Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Authors:  Jing Wang; Hui Yu; Victor Wei Zhang; Xia Tian; Yanming Feng; Guoli Wang; Elizabeth Gorman; Hao Wang; Richard E Lutz; Eric S Schmitt; Sandra Peacock; Lee-Jun Wong
Journal:  Genet Med       Date:  2015-09-24       Impact factor: 8.822

6.  SINE indel polymorphism of AGL gene and association with growth and carcass traits in Landrace x Jeju Black pig F(2) population.

Authors:  Sang-Hyun Han; Kwang-Yun Shin; Sung-Soo Lee; Moon-Suck Ko; Dong Kee Jeong; Hong-Shik Oh; Byoung-Chul Yang; In-Cheol Cho
Journal:  Mol Biol Rep       Date:  2009-08-01       Impact factor: 2.316

7.  Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Authors:  Fernanda Sperb-Ludwig; Franciele Cabral Pinheiro; Malu Bettio Soares; Tatiele Nalin; Erlane Marques Ribeiro; Carlos Eduardo Steiner; Eugênia Ribeiro Valadares; Gilda Porta; Carolina Fishinger Moura de Souza; Ida Vanessa Doederlein Schwartz
Journal:  Mol Genet Genomic Med       Date:  2019-09-11       Impact factor: 2.183
  7 in total

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